/congenital myasthenic syndrome 4A

congenital myasthenic syndrome 4A

Rare Disease

MONDO:0011600

Also Known As

CMS Ia1CMS1A1CMS4Acongenital myasthenic syndrome 4A slow-channelcongenital myasthenic syndrome type 4Acongenital myasthenic syndrometype Ia1Cms Ia1Cms Ia1, formerlycongenital myasthenic syndrome type Ia1congenital myasthenic syndrome type Ia1, formerlymyasthenic syndrome, congenital, 4A, slow-channel

Definition

A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13.